Canonical Allele Identifier:
CA523488251
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001925 (AFR)
Genomes Max Group AF
0.00001925 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.72346221G>C , CM000663.2:g.72346221G>C | GRCh38 |
| NC_000001.10:g.72811904G>C , CM000663.1:g.72811904G>C | GRCh37 |
| NC_000001.9:g.72584492G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947505.1:n.310+62816G>C | ||
| XR_947506.1:n.310+62816G>C | ||
| XR_947507.1:n.310+62816G>C | ||
| XR_001737670.1:n.414+62816G>C | ||
| XR_001737671.2:n.418+62816G>C | ||
| XR_947505.2:n.414+62816G>C | ||
| XR_947506.2:n.414+62816G>C |